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Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.
  1. P E Polani,
  2. E Alberman,
  3. B J Alexander,
  4. P F Benson,
  5. A C Berry,
  6. S Blunt,
  7. M G Daker,
  8. A H Fensom,
  9. D M Garrett,
  10. V M McGuire,
  11. J A Roberts,
  12. M J Seller,
  13. J D Singer

    Abstract

    The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this. In 1916 patients who had a successful amniocentesis, results indicative of fetal abnormality were found in 4.3% and a balanced translocation was found in an additional 0.9%. Results indicative of fetal abnormality were found in 3.5% of mothers referred because of a maternal age of 40 or more, 3.9% referred because of a high risk of neural tube defect, and 19.3% referred because of a high risk of an inborn error of metabolism. A number of cases with difficult diagnostic problems are described.

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